Table 2 GALT genotypes in the Polish cohort
From: The genetic basis of classical galactosaemia in Polish patients
Genotype | Families | Patients | |||||||
|---|---|---|---|---|---|---|---|---|---|
ALLEL 1 | ALLEL 2 | n | % | n | % | ||||
cDNA name | Amino acid name | Effect | cDNA name | Amino acid name | Effect | ||||
c.563A>G | p.Gln188Arg | m | c.563A>G | p.Gln188Arg | m | 53* | 30 | 60 | 31 |
c.563A>G | p.Gln188Arg | m | c.855G>T | p.Lys285Asn | m | 39 | 22 | 41 | 21 |
c.855G>T | p.Lys285Asn | m | c.855G>T | p.Lys285Asn | m | 26* | 15 | 29 | 15 |
c.563A>G | p.Gln188Arg | m | c.997C>T | p.Arg333Trp | m | 3 | 2 | 4 | 2 |
c.855G>T | p.Lys285Asn | m | c.958G>A | p.Ala320Thr | m | 3 | 2 | 3 | 2 |
c.855G>T | p.Lys285Asn | m | c.997C>T | p.Arg333Trp | m | 3 | 2 | 3 | 2 |
c.152G>T | p.Arg51Leu | m | c.563A>G | p.Gln188Arg | m | 3 | 2 | 4 | 2 |
c.626A>G | p.Tyr209Cys | m | c.563A>G | p.Gln188Arg | m | 2 | 1 | 3 | 2 |
c.855G>T | p.Lys285Asn | m | c.1138T>C | p.Ter380Arg | STOP codon loss | 2 | 1 | 3 | 2 |
c.855G>T | p.Lys285Asn | m | c.83-11T>G | Â | spl | 1 | 1 | 2 | 1 |
c.563A>G | p.Gln188Arg | m | c.-119_-116delGTCA; c.940A>G | NA;p.Asn314Asp | spl | 2 | 1 | 2 | 1 |
c.329-2A>C | nd | spl | c.563A>G | p.Gln188Arg | m | 1 | 1 | 2 | 1 |
c.563A>G | p.Gln188Arg | m | c.1014C>G | p.Gly338Gly | spl | 2 | 1 | 2 | 1 |
c.329-2A>C | nd | spl | c.855G>T | p.Lys285Asn | m | 2 | 1 | 2 | 1 |
c.425T>A | p.Met142Lys | m | c.855G>T | p.Lys285Asn | m | 2 | 1 | 2 | 1 |
c.563A>G | p.Gln188Arg | m | c.425T>A | p.Met142Lys | m | 1 | 1 | 2 | 1 |
c.260C>T | p.Pro87Leu | m | c.626A>C | p.Tyr209Ser | m | 1 | 1 | 2 | 1 |
c.563A>G | p.Gln188Arg | m | c.329-2A>C | NA | spl | 1 | 1 | 1 | 1 |
c.855G>T | p.Lys285Asn | m | c.329-2A>C | NA | spl | 2 | 1 | 2 | 1 |
c.855G>T | p.Lys285Asn | m | c.-119_-116delGTCA; | Â | Â | Â | Â | Â | Â |
c.940A>G | NA;p.Asn314Asp | spl | 1 | 1% | 1 | 1% | Â | Â | Â |
c.392T>G | p.Phe131Cys | m | c.958G>A | p.Ala320Thr | m | 1 | 1 | 1 | 1 |
c.563A>G | p.Gln188Arg | m | c.611G>C | p.Arg204Pro | m | 1 | 1 | 1 | 1 |
c.329-2A>C | NA | spl | c.982C>T | p.Arg328Cys | m | 1 | 1 | 1 | 1 |
c.329-2A>C | NA | spl | c.329-2A>C | NA | spl | 1 | 1 | 1 | 1 |
c.563A>G | p.Gln188Arg | m | c.152G>A | p.Arg51Gln | m | 1 | 1 | 1 | 1 |
c.563A>G | p.Gln188Arg | m | c.152G>T | p.Arg51Leu | m | 1 | 1 | 1 | 1 |
c.563A>G | p.Gln188Arg | m | c.490C>T | p.Gln164Ter | PTC | 1 | 1 | 1 | 1 |
c.329-2A>C | NA | m | c.505C>A | p.Gln169Lys | m | 1 | 1 | 1 | 1 |
c.563A>G | p.Gln188Arg | m | unknown | unknown | Â | 1 | 1 | 1 | 1 |
c.134C>T | p.Ser45Leu | m | c.563A>G | p.Gln188Arg | m | 1 | 1 | 1 | 1 |
c.404C>T | p.Ser135Leu | m | c.563A>G | p.Gln188Arg | m | 1 | 1 | 1 | 1 |
c.499T>C | p.Trp167Arg | m | c.563A>G | p.Gln188Arg | m | 1 | 1 | 1 | 1 |
c.507+2T>C | NA | m | c.563A>G | p.Gln188Arg | m | 1 | 1 | 1 | 1 |
c.152G>T | p.Arg51Leu | m | c.563A>G | p.Gln188Arg | m | 1 | 1 | 1 | 1 |
c.563A>G | p.Gln188Arg | m | c.812A>G | p.Glu271Gly | m | 1 | 1 | 1 | 1 |
c.563A>G | p.Gln188Arg | m | 1054G>C | p.Glu352Gln | m | 1 | 1 | 1 | 1 |
c.425T>A | p.Met142Lys | m | c.584T>C | p.Leu195Pro | m | 1 | 1 | 1 | 1 |
c.285T>G | p.Phe95Leu | m | c.855G>T | p.Lys285Asn | m | 1 | 1 | 1 | 1 |
c.626A>C | p.Tyr209Ser | m | unknown | unknown | Â | 1 | 1 | 1 | 1 |
c.626A>C | p.Tyr209Ser | m | c.855G>T | p.Lys285Asn | m | 1 | 1 | 1 | 1 |
c.812A>G | p.Glu271Gly | m | c.855G>T | p.Lys285Asn | m | 1 | 1 | 1 | 1 |
c.584T>C | p.Leu195Pro | m | c.855G>T | p.Lys285Asn | m | 1 | 1 | 1 | 1 |
c.626A>C | p.Tyr209Ser | m | c.855G>T | p.Lys285Asn | m | 1 | 1 | 1 | 1 |
c.329-2A>C | NA | spl | c.748C>A | p.Pro250Thr | m | 1 | 1 | 1 | 1 |
c.563A>G | p.Gln188Arg | m | c.499T>C | p.Trp167Arg | m | 1 | 1 | 1 | 1 |